An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy

Autor: Brunhilde Wirth, Sabrina W. Yum, Homa Tajsharghi, Alistair T. Pagnamenta, Andrea H. Németh, Carsten G. Bönnemann, Elgar G, Marks P, Francisca Millan, J Rankin, Matteo P. Ferla, Kaiyrzhanov R, Lassche S, Orioli A, Jenny C. Taylor, Khalid A. Fakhro, Carlo Marcelis, O'Donnell M, Henry Houlden, Chiara Marini-Bettolo, Z Zolkipli-Cunningham, Arianna Tucci, Reza Maroofian, Adam Giess, Heinz Jungbluth, Lavin T, Behnaz Ansari, Yaqun Zou, Mert Karakaya, Ali-Reza Moslemi, Beetz C, Rita Barresi, M O'Driscoll, C C Muraresku, Fiona Norwood, Gutowski N, Francesco Muntoni, A. C. Need, Natalia Dominik, Keivan Basiri, Brusius I, S B Neuhaus, Lauffer M, Andrea Cortese, A.R. Foley, Mary M. Reilly, Anna Sarkozy, Gilbert Wunderlich, Fernandez-Garcia Ma, Sandra Donkervoort, Sahar I. Da'as, Yip J, Maryam Sedghi, Livija Medne

Publikováno v: Brain
Brain, 144, 2, pp. 584-600
Brain, 144, 584-600

See Arribat (doi.10.1093/brain/awaa464) for a scientific commentary on this article. In a series of 17 individuals with neuropathy and rare biallelic variants in VWA1, Pagnamenta et al. identify a single frameshift present in the majority of patients

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https://pubmed.ncbi.nlm.nih.gov/33693694

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An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy.

Autor: Pagnamenta AT; NIHR Biomedical Research Centre, Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK., Kaiyrzhanov R; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, UK., Zou Y; Neuromuscular and Neurogenetic Disorders of Childhood Section, NINDS, National Institutes of Health, Bethesda, MD, USA., Da'as SI; Department of Human Genetics, Sidra Medicine, Doha, Qatar., Maroofian R; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, UK., Donkervoort S; Neuromuscular and Neurogenetic Disorders of Childhood Section, NINDS, National Institutes of Health, Bethesda, MD, USA., Dominik N; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, UK., Lauffer M; Institute of Human Genetics, Center for Molecular Medicine Cologne (CMMC), Institute of Genetics, and Center for Rare Diseases Cologne, University of Cologne, Cologne, Germany., Ferla MP; NIHR Biomedical Research Centre, Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK., Orioli A; William Harvey Research Institute, Queen Mary University of London, London, UK.; Genomics England, London, UK., Giess A; William Harvey Research Institute, Queen Mary University of London, London, UK.; Genomics England, London, UK., Tucci A; William Harvey Research Institute, Queen Mary University of London, London, UK.; Genomics England, London, UK., Beetz C; Centogene AG, Rostock, Germany., Sedghi M; Medical Genetics Laboratory, Alzahra University Hospital, Isfahan University of Medical Sciences, Isfahan, Iran., Ansari B; Department of Neurology, Faculty of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran., Barresi R; The John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Newcastle, UK.; Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle, UK., Basiri K; Department of Neurology, Faculty of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran., Cortese A; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, UK., Elgar G; William Harvey Research Institute, Queen Mary University of London, London, UK.; Genomics England, London, UK., Fernandez-Garcia MA; Department of Paediatric Neurology - Neuromuscular Service, Evelina Children's Hospital, Guy's & St Thomas' NHS Foundation Trust, London, UK., Yip J; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, UK., Foley AR; Neuromuscular and Neurogenetic Disorders of Childhood Section, NINDS, National Institutes of Health, Bethesda, MD, USA., Gutowski N; Department of Neurology, Royal Devon and Exeter NHS Trust, Exeter, UK., Jungbluth H; Department of Paediatric Neurology - Neuromuscular Service, Evelina Children's Hospital, Guy's & St Thomas' NHS Foundation Trust, London, UK.; Randall Division of Cell and Molecular Biophysics Muscle Signalling Section, King's College London, London, UK.; Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK., Lassche S; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Centre, Nijmegen, The Netherlands., Lavin T; Department of Neurology, Salford Royal NHS Foundation Trust, Manchester, UK., Marcelis C; Department of Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands., Marks P; West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham Women's and Children's Hospital NHS Foundation Trust, Birmingham, UK., Marini-Bettolo C; The John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Newcastle, UK.; Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle, UK., Medne L; Divisions of Neurology and Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Moslemi AR; Department of Pathology, University of Gothenburg, Sahlgrenska University Hospital, Sweden., Sarkozy A; The Dubowitz Neuromuscular Centre, NIHR Great Ormond Street Hospital Biomedical Research Centre, UCL Great Ormond Street Institute of Child Health, and Great Ormond Street Hospital Trust, London, UK., Reilly MM; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, UK., Muntoni F; The Dubowitz Neuromuscular Centre, NIHR Great Ormond Street Hospital Biomedical Research Centre, UCL Great Ormond Street Institute of Child Health, and Great Ormond Street Hospital Trust, London, UK., Millan F; GeneDx, Gaithersburg, 20877 MD, USA., Muraresku CC; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Children's Hospital of Philadelphia, PA, USA., Need AC; William Harvey Research Institute, Queen Mary University of London, London, UK.; Genomics England, London, UK., Nemeth AH; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK.; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Trust, Oxford, UK., Neuhaus SB; Neuromuscular and Neurogenetic Disorders of Childhood Section, NINDS, National Institutes of Health, Bethesda, MD, USA., Norwood F; Department of Neurology, King's College Hospital, London, UK., O'Donnell M; West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham Women's and Children's Hospital NHS Foundation Trust, Birmingham, UK., O'Driscoll M; West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham Women's and Children's Hospital NHS Foundation Trust, Birmingham, UK., Rankin J; Peninsula Clinical Genetics Service, Royal Devon and Exeter NHS Trust, Exeter, UK., Yum SW; Division of Pediatric Neurology, The Children's Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA., Zolkipli-Cunningham Z; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Children's Hospital of Philadelphia, PA, USA.; Department of Pediatrics, Perelman School of Medicine, Philadelphia, PA, USA., Brusius I; Institute of Human Genetics, Center for Molecular Medicine Cologne (CMMC), Institute of Genetics, and Center for Rare Diseases Cologne, University of Cologne, Cologne, Germany., Wunderlich G; Department of Neurology, Center for Rare Diseases Cologne, University Hospital Cologne, Cologne, Germany., Karakaya M; Institute of Human Genetics, Center for Molecular Medicine Cologne (CMMC), Institute of Genetics, and Center for Rare Diseases Cologne, University of Cologne, Cologne, Germany., Wirth B; Institute of Human Genetics, Center for Molecular Medicine Cologne (CMMC), Institute of Genetics, and Center for Rare Diseases Cologne, University of Cologne, Cologne, Germany., Fakhro KA; Department of Human Genetics, Sidra Medicine, Doha, Qatar.; College of Health and Life Sciences, Hamad Bin Khalifa University, Doha, Qatar.; Department of Genetic Medicine, Weill Cornell Medical College, Doha, Qatar., Tajsharghi H; School of Health Science, Division Biomedicine and Translational Medicine, University of Skovde, Sweden., Bönnemann CG; Neuromuscular and Neurogenetic Disorders of Childhood Section, NINDS, National Institutes of Health, Bethesda, MD, USA., Taylor JC; NIHR Biomedical Research Centre, Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK., Houlden H; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, UK.

Publikováno v: Brain : a journal of neurology [Brain] 2021 Mar 03; Vol. 144 (2), pp. 584-600.